Mutagenetix > Incidental Mutation

Incidental Mutation 'R9002:Ifi211'

685004

Institutional Source

Beutler Lab

Gene Symbol

Ifi211

Ensembl Gene

ENSMUSG00000026536

Gene Name

interferon activated gene 211

Synonyms

Ifi205b, Mnda

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R9002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173723911-173740612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 173733894 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 89 (V89A)

Ref Sequence

ENSEMBL: ENSMUSP00000009340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009340] [ENSMUST00000111210]

AlphaFold

P0DOV1

PDB Structure

Solution structures of the PAAD_DAPIN domain of mus musculus interferon-activatable protein 205 [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000009340
AA Change: V89A

PolyPhen 2 Score 0.679 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000009340
Gene: ENSMUSG00000026536
AA Change: V89A

Domain	Start	End	E-Value	Type
PYRIN	6	84	1.94e-14	SMART
low complexity region	120	154	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
Pfam:HIN	225	393	2.2e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111210

SMART Domains

Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272

Domain	Start	End	E-Value	Type
PYRIN	5	83	3.71e-20	SMART
internal_repeat_1	152	166	2.38e-7	PROSPERO
low complexity region	170	200	N/A	INTRINSIC
internal_repeat_1	208	222	2.38e-7	PROSPERO
low complexity region	225	249	N/A	INTRINSIC
low complexity region	276	292	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC
Pfam:HIN	311	479	3.4e-76	PFAM
low complexity region	497	507	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the interferon-regulated 200 family of proteins, which contain an N-terminal pyrin domain that is proposed to function in cell death and a partially conserved 220 amino acid domain. Expression of this protein in embryonic stem cells is critical for the DNA damage response and regulation of cell survival. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,241,926 (GRCm39)	M1263K	possibly damaging	Het
Abca8b	C	T	11: 109,843,456 (GRCm39)	D985N	probably benign	Het
Ak5	A	T	3: 152,359,091 (GRCm39)	M207K	probably damaging	Het
Akt1	T	C	12: 112,626,048 (GRCm39)	I75V	probably benign	Het
Ank	T	A	15: 27,544,413 (GRCm39)	L58*	probably null	Het
Ap1g1	A	C	8: 110,581,738 (GRCm39)	T666P	probably benign	Het
Ap3b2	A	T	7: 81,117,192 (GRCm39)	S615T	probably benign	Het
Ash1l	G	T	3: 88,888,715 (GRCm39)	R198L	probably benign	Het
Axl	A	T	7: 25,478,103 (GRCm39)	C199S	probably damaging	Het
C1d	T	C	11: 17,212,787 (GRCm39)	L44S	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Col4a4	A	G	1: 82,449,032 (GRCm39)	L1186P	probably benign	Het
Ctdsp2	T	A	10: 126,832,061 (GRCm39)	I223N	probably damaging	Het
Efcab3	A	T	11: 104,920,822 (GRCm39)	D4671V	probably damaging	Het
Eml1	T	A	12: 108,504,438 (GRCm39)	I799N	probably damaging	Het
Fbxw18	G	A	9: 109,519,660 (GRCm39)	T282I	probably damaging	Het
Fmo2	A	T	1: 162,705,647 (GRCm39)	C397*	probably null	Het
Gbp10	C	A	5: 105,369,847 (GRCm39)	V262L	probably benign	Het
Gm45871	A	T	18: 90,609,968 (GRCm39)	H402L	probably damaging	Het
Has1	T	C	17: 18,063,912 (GRCm39)	S576G	unknown	Het
Hat1	C	T	2: 71,271,647 (GRCm39)	R407W	probably damaging	Het
Hivep2	G	T	10: 14,008,157 (GRCm39)	R1585L	probably benign	Het
Igkv4-59	T	C	6: 69,415,475 (GRCm39)	T27A	possibly damaging	Het
Irf9	T	A	14: 55,845,140 (GRCm39)	N333K	possibly damaging	Het
Jakmip2	C	T	18: 43,715,323 (GRCm39)	V68I	probably benign	Het
Kif1b	T	G	4: 149,275,712 (GRCm39)	I1400L	probably damaging	Het
Kif2b	C	T	11: 91,467,053 (GRCm39)	C410Y	probably benign	Het
Klk1b16	T	C	7: 43,790,189 (GRCm39)	L153P	possibly damaging	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lama5	A	G	2: 179,838,311 (GRCm39)	C855R	probably damaging	Het
Mast3	A	G	8: 71,233,904 (GRCm39)	L947P	probably damaging	Het
Mblac2	C	A	13: 81,860,072 (GRCm39)	A142E	possibly damaging	Het
Mppe1	A	G	18: 67,358,925 (GRCm39)	S348P	possibly damaging	Het
Mroh8	A	C	2: 157,058,939 (GRCm39)	V909G	probably damaging	Het
Mthfd1	C	T	12: 76,350,754 (GRCm39)	T712M	probably benign	Het
Nek10	T	C	14: 14,980,590 (GRCm38)	L982P	probably damaging	Het
Nlrp4b	C	T	7: 10,448,886 (GRCm39)	T363I	probably damaging	Het
Nol10	A	G	12: 17,408,134 (GRCm39)	E120G	probably damaging	Het
Olfml1	T	C	7: 107,189,423 (GRCm39)	S163P	probably damaging	Het
Or2n1c	A	T	17: 38,519,555 (GRCm39)	N140Y	probably benign	Het
Or51a7	A	T	7: 102,614,618 (GRCm39)	I104F	probably damaging	Het
Or6ae1	T	C	7: 139,742,198 (GRCm39)	I222V	probably damaging	Het
Or8b43	T	A	9: 38,360,171 (GRCm39)	M1K	probably null	Het
Or8i2	T	C	2: 86,852,241 (GRCm39)	T216A	probably benign	Het
Pde6a	T	A	18: 61,419,060 (GRCm39)	L812Q	probably damaging	Het
Pdxp	T	A	15: 78,802,459 (GRCm39)	M231K	probably damaging	Het
Pi4ka	A	G	16: 17,117,317 (GRCm39)	L1368P		Het
Ppie	T	C	4: 123,024,344 (GRCm39)	N171S	possibly damaging	Het
Rimbp2	T	C	5: 128,865,356 (GRCm39)	H657R	probably benign	Het
Sarnp	T	A	10: 128,657,842 (GRCm39)		probably null	Het
Serpinb9c	T	C	13: 33,334,329 (GRCm39)	T266A	probably damaging	Het
Srgap3	T	A	6: 112,757,854 (GRCm39)	I218F	possibly damaging	Het
Susd1	C	A	4: 59,324,882 (GRCm39)	W717L	probably benign	Het
Tgfbi	A	G	13: 56,771,402 (GRCm39)	Y88C	probably damaging	Het
Tmc6	A	T	11: 117,661,308 (GRCm39)	F624Y	probably damaging	Het
Tnni2	A	G	7: 141,998,013 (GRCm39)	E172G	probably damaging	Het
Traf3ip1	T	C	1: 91,433,178 (GRCm39)	S316P	probably benign	Het
Tshr	C	A	12: 91,504,548 (GRCm39)	N495K	possibly damaging	Het
Ulk3	C	A	9: 57,500,542 (GRCm39)	A317E	probably damaging	Het
Usp24	T	C	4: 106,275,412 (GRCm39)	V2229A	possibly damaging	Het
Usp32	G	A	11: 84,944,777 (GRCm39)	R304C	probably damaging	Het
Usp40	C	T	1: 87,935,063 (GRCm39)	G28D	probably benign	Het
Vmn1r41	A	G	6: 89,724,109 (GRCm39)	K217E	possibly damaging	Het
Vmn2r73	T	A	7: 85,507,284 (GRCm39)	K676M	probably benign	Het
Vnn1	A	G	10: 23,775,349 (GRCm39)	T200A	possibly damaging	Het
Zc3hav1	A	G	6: 38,302,176 (GRCm39)	L698P	possibly damaging	Het

Other mutations in Ifi211

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03258:Ifi211	APN	1	173,733,098 (GRCm39)	missense	probably benign	0.40
IGL03304:Ifi211	APN	1	173,735,273 (GRCm39)	missense	probably damaging	1.00
BB007:Ifi211	UTSW	1	173,733,769 (GRCm39)	missense	possibly damaging	0.91
BB017:Ifi211	UTSW	1	173,733,769 (GRCm39)	missense	possibly damaging	0.91
FR4548:Ifi211	UTSW	1	173,733,759 (GRCm39)	missense	possibly damaging	0.85
R1686:Ifi211	UTSW	1	173,726,969 (GRCm39)	missense	probably damaging	0.99
R2011:Ifi211	UTSW	1	173,735,169 (GRCm39)	missense	probably damaging	0.99
R4657:Ifi211	UTSW	1	173,735,226 (GRCm39)	missense	probably benign	0.03
R5220:Ifi211	UTSW	1	173,735,262 (GRCm39)	missense	probably damaging	1.00
R5410:Ifi211	UTSW	1	173,733,829 (GRCm39)	missense	probably benign	0.08
R6644:Ifi211	UTSW	1	173,733,118 (GRCm39)	missense	probably benign	0.42
R6953:Ifi211	UTSW	1	173,733,832 (GRCm39)	missense	probably damaging	1.00
R7451:Ifi211	UTSW	1	173,727,058 (GRCm39)	missense	probably damaging	1.00
R7567:Ifi211	UTSW	1	173,729,401 (GRCm39)	missense	probably damaging	1.00
R7667:Ifi211	UTSW	1	173,727,020 (GRCm39)	missense	probably damaging	1.00
R7930:Ifi211	UTSW	1	173,733,769 (GRCm39)	missense	possibly damaging	0.91
R8499:Ifi211	UTSW	1	173,733,086 (GRCm39)	missense	probably benign	0.40
R9299:Ifi211	UTSW	1	173,735,288 (GRCm39)	missense	probably damaging	0.96
R9562:Ifi211	UTSW	1	173,733,052 (GRCm39)	missense	probably benign	0.43
Z1088:Ifi211	UTSW	1	173,735,226 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- AAGAAATCACCTCTGCCTGTC -3'
(R):5'- CAAAAGTTGTGCCTTTAGAGTTGTG -3'

Sequencing Primer
(F):5'- TCACCTGGGCTGTGGAAGTC -3'
(R):5'- TTAGAGTTGTGTTGCTAGAGTAAAC -3'

Posted On

2021-10-11